Incidental Mutation 'R2884:Brsk1'
| ID |
260960 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brsk1
|
| Ensembl Gene |
ENSMUSG00000035390 |
| Gene Name |
BR serine/threonine kinase 1 |
| Synonyms |
SAD-B, LOC381979 |
| MMRRC Submission |
040472-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2884 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
4693635-4718996 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 4694122 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145845
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048248]
[ENSMUST00000120836]
[ENSMUST00000205666]
[ENSMUST00000206024]
|
| AlphaFold |
Q5RJI5 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000048248
AA Change: Y15C
|
| SMART Domains |
Protein: ENSMUSP00000039517
Gene: ENSMUSG00000035390
AA Change: Y15C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
|
low complexity region
|
13 |
30 |
N/A |
INTRINSIC |
|
S_TKc
|
34 |
285 |
6.75e-103 |
SMART |
|
low complexity region
|
330 |
344 |
N/A |
INTRINSIC |
|
low complexity region
|
430 |
457 |
N/A |
INTRINSIC |
|
low complexity region
|
492 |
517 |
N/A |
INTRINSIC |
|
low complexity region
|
523 |
552 |
N/A |
INTRINSIC |
|
low complexity region
|
668 |
686 |
N/A |
INTRINSIC |
|
low complexity region
|
746 |
764 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120836
|
| SMART Domains |
Protein: ENSMUSP00000113448
Gene: ENSMUSG00000035390
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
1 |
210 |
1.19e-71 |
SMART |
|
low complexity region
|
255 |
269 |
N/A |
INTRINSIC |
|
low complexity region
|
355 |
382 |
N/A |
INTRINSIC |
|
low complexity region
|
417 |
442 |
N/A |
INTRINSIC |
|
low complexity region
|
448 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
593 |
611 |
N/A |
INTRINSIC |
|
low complexity region
|
671 |
689 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205666
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000206024
AA Change: Y15C
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mutant mice are healthy and fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
G |
T |
8: 120,872,250 (GRCm39) |
E59D |
possibly damaging |
Het |
| Arhgap27 |
T |
C |
11: 103,251,669 (GRCm39) |
|
probably null |
Het |
| BC061237 |
A |
G |
14: 44,738,627 (GRCm39) |
R9G |
possibly damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cspg4b |
G |
T |
13: 113,505,725 (GRCm39) |
A2285S |
probably benign |
Het |
| Cspg4b |
A |
T |
13: 113,457,216 (GRCm39) |
Q1087H |
probably damaging |
Het |
| Dnajb5 |
A |
T |
4: 42,957,355 (GRCm39) |
D284V |
probably damaging |
Het |
| Dnmt3a |
A |
G |
12: 3,946,132 (GRCm39) |
D329G |
probably damaging |
Het |
| Ecd |
C |
T |
14: 20,370,841 (GRCm39) |
G626D |
probably damaging |
Het |
| Exoc3l4 |
A |
G |
12: 111,394,956 (GRCm39) |
D551G |
possibly damaging |
Het |
| Fam227b |
A |
T |
2: 125,942,846 (GRCm39) |
I317N |
probably benign |
Het |
| Fam3c |
G |
A |
6: 22,329,581 (GRCm39) |
R49C |
probably damaging |
Het |
| Fcrl5 |
A |
G |
3: 87,364,698 (GRCm39) |
Y566C |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,848,127 (GRCm39) |
N1779S |
probably benign |
Het |
| Gm19965 |
T |
A |
1: 116,749,313 (GRCm39) |
N331K |
probably benign |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| H2ac8 |
A |
G |
13: 23,755,047 (GRCm39) |
I79T |
probably damaging |
Het |
| H2-DMa |
A |
G |
17: 34,356,121 (GRCm39) |
N41S |
probably damaging |
Het |
| Habp4 |
A |
T |
13: 64,330,080 (GRCm39) |
R328S |
probably benign |
Het |
| Hexb |
C |
T |
13: 97,320,208 (GRCm39) |
G272D |
probably damaging |
Het |
| Lilrb4a |
A |
T |
10: 51,367,709 (GRCm39) |
N84Y |
probably benign |
Het |
| Mtnr1a |
A |
G |
8: 45,540,305 (GRCm39) |
T89A |
probably benign |
Het |
| Myh13 |
T |
A |
11: 67,228,469 (GRCm39) |
N336K |
probably benign |
Het |
| Naca |
T |
C |
10: 127,877,547 (GRCm39) |
|
probably benign |
Het |
| Naif1 |
C |
T |
2: 32,344,887 (GRCm39) |
P197L |
probably benign |
Het |
| Nprl3 |
A |
G |
11: 32,198,163 (GRCm39) |
L179P |
probably damaging |
Het |
| Nup93 |
A |
G |
8: 95,030,266 (GRCm39) |
Y375C |
probably damaging |
Het |
| Or52b4 |
A |
G |
7: 102,184,439 (GRCm39) |
I162V |
probably benign |
Het |
| Pcdha12 |
G |
A |
18: 37,153,757 (GRCm39) |
D159N |
probably damaging |
Het |
| Plekhs1 |
G |
A |
19: 56,459,258 (GRCm39) |
G39R |
probably benign |
Het |
| Ppp4r3a |
T |
C |
12: 101,034,936 (GRCm39) |
E53G |
probably damaging |
Het |
| Prss48 |
A |
T |
3: 85,904,562 (GRCm39) |
M212K |
probably benign |
Het |
| Pth |
A |
T |
7: 112,985,235 (GRCm39) |
L46Q |
probably damaging |
Het |
| Rin2 |
A |
T |
2: 145,702,911 (GRCm39) |
T536S |
probably benign |
Het |
| Setx |
T |
G |
2: 29,038,637 (GRCm39) |
C1707W |
probably damaging |
Het |
| Stau2 |
A |
T |
1: 16,301,290 (GRCm39) |
F519Y |
possibly damaging |
Het |
| Syne2 |
T |
G |
12: 76,010,533 (GRCm39) |
V2481G |
probably benign |
Het |
| Tpte |
C |
T |
8: 22,825,439 (GRCm39) |
Q331* |
probably null |
Het |
| Ttn |
G |
T |
2: 76,730,596 (GRCm39) |
|
probably benign |
Het |
| Utrn |
A |
T |
10: 12,615,105 (GRCm39) |
|
probably null |
Het |
| Vmn2r82 |
A |
G |
10: 79,232,082 (GRCm39) |
I694V |
probably benign |
Het |
| Vmn2r88 |
G |
A |
14: 51,651,391 (GRCm39) |
C235Y |
probably damaging |
Het |
| Xrn2 |
T |
A |
2: 146,889,576 (GRCm39) |
V653E |
probably damaging |
Het |
| Znrf3 |
A |
T |
11: 5,239,693 (GRCm39) |
D58E |
probably damaging |
Het |
|
| Other mutations in Brsk1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01704:Brsk1
|
APN |
7 |
4,707,260 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01733:Brsk1
|
APN |
7 |
4,709,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03019:Brsk1
|
APN |
7 |
4,713,496 (GRCm39) |
intron |
probably benign |
|
|
IGL03088:Brsk1
|
APN |
7 |
4,713,453 (GRCm39) |
intron |
probably benign |
|
|
R0612:Brsk1
|
UTSW |
7 |
4,710,425 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0891:Brsk1
|
UTSW |
7 |
4,707,226 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1455:Brsk1
|
UTSW |
7 |
4,707,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1728:Brsk1
|
UTSW |
7 |
4,707,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2939:Brsk1
|
UTSW |
7 |
4,711,139 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4392:Brsk1
|
UTSW |
7 |
4,701,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4661:Brsk1
|
UTSW |
7 |
4,710,298 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4662:Brsk1
|
UTSW |
7 |
4,710,298 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4756:Brsk1
|
UTSW |
7 |
4,711,866 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4788:Brsk1
|
UTSW |
7 |
4,701,954 (GRCm39) |
splice site |
probably null |
|
|
R5026:Brsk1
|
UTSW |
7 |
4,707,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5248:Brsk1
|
UTSW |
7 |
4,711,865 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5267:Brsk1
|
UTSW |
7 |
4,707,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5419:Brsk1
|
UTSW |
7 |
4,712,003 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5430:Brsk1
|
UTSW |
7 |
4,713,435 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5625:Brsk1
|
UTSW |
7 |
4,709,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5659:Brsk1
|
UTSW |
7 |
4,718,371 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6700:Brsk1
|
UTSW |
7 |
4,695,700 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6866:Brsk1
|
UTSW |
7 |
4,709,406 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7169:Brsk1
|
UTSW |
7 |
4,718,403 (GRCm39) |
missense |
probably benign |
|
|
R8404:Brsk1
|
UTSW |
7 |
4,709,695 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8893:Brsk1
|
UTSW |
7 |
4,711,089 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9309:Brsk1
|
UTSW |
7 |
4,709,118 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9311:Brsk1
|
UTSW |
7 |
4,709,722 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9584:Brsk1
|
UTSW |
7 |
4,709,662 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1088:Brsk1
|
UTSW |
7 |
4,710,371 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
Z1177:Brsk1
|
UTSW |
7 |
4,707,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGTGATGTCAGCGTGCC -3'
(R):5'- AAATATCCATGGTCCCGCC -3'
Sequencing Primer
(F):5'- ATGCTGATTCCAGGGGCCTG -3'
(R):5'- CATGGTCCCGCCCTCTG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation